Incidental Mutation 'R4213:Hdc'
| ID |
319290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdc
|
| Ensembl Gene |
ENSMUSG00000027360 |
| Gene Name |
histidine decarboxylase |
| Synonyms |
Hdc-s, Hdc-a, L-histidine decarboxylase, Hdc-e, Hdc-c |
| MMRRC Submission |
041040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
R4213 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126435587-126461219 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 126439786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
| AlphaFold |
P23738 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028838
|
| SMART Domains |
Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Pfam:Pyridoxal_deC
|
43 |
421 |
2.2e-173 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138752
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mast cells, altered anxiety-related and nociceptive behavior, altered cognitive function, increased weight gain, visceral adiposity, increased amount of brown adipose tissue, impaired glucose tolerance, hyperinsulinemia, and hyperleptinemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
A |
C |
8: 123,617,765 (GRCm39) |
V2029G |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,178,988 (GRCm39) |
V291E |
probably benign |
Het |
| Cad |
G |
A |
5: 31,229,688 (GRCm39) |
V1390I |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,599,462 (GRCm39) |
D281E |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,008 (GRCm39) |
T655I |
probably damaging |
Het |
| Cep350 |
C |
G |
1: 155,811,707 (GRCm39) |
G411A |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,261 (GRCm39) |
F210L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,430,865 (GRCm39) |
M1679K |
unknown |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,525,225 (GRCm39) |
F527V |
probably damaging |
Het |
| Dipk1b |
C |
T |
2: 26,525,960 (GRCm39) |
T298I |
probably benign |
Het |
| Dsg2 |
T |
C |
18: 20,731,571 (GRCm39) |
L731P |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,989,581 (GRCm39) |
T343A |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,011,106 (GRCm39) |
L72P |
probably damaging |
Het |
| Gpr137c |
G |
A |
14: 45,483,965 (GRCm39) |
E231K |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,183,139 (GRCm39) |
N1112S |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kplce |
G |
A |
3: 92,776,434 (GRCm39) |
P83L |
probably benign |
Het |
| Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
| Nmur1 |
T |
G |
1: 86,315,506 (GRCm39) |
T87P |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,465 (GRCm39) |
Y169C |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,824,553 (GRCm39) |
A510S |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,916,038 (GRCm39) |
E1275K |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sqor |
G |
T |
2: 122,629,418 (GRCm39) |
G92V |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,563 (GRCm39) |
I452N |
probably damaging |
Het |
| Tob1 |
A |
G |
11: 94,105,018 (GRCm39) |
T185A |
probably damaging |
Het |
| Yjefn3 |
G |
T |
8: 70,343,540 (GRCm39) |
H50Q |
probably benign |
Het |
| Zswim1 |
T |
C |
2: 164,667,705 (GRCm39) |
V319A |
probably benign |
Het |
|
| Other mutations in Hdc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Hdc
|
APN |
2 |
126,443,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01024:Hdc
|
APN |
2 |
126,445,766 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01393:Hdc
|
APN |
2 |
126,436,581 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01802:Hdc
|
APN |
2 |
126,445,814 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01958:Hdc
|
APN |
2 |
126,436,452 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02193:Hdc
|
APN |
2 |
126,443,700 (GRCm39) |
splice site |
probably benign |
|
|
IGL02494:Hdc
|
APN |
2 |
126,436,041 (GRCm39) |
missense |
probably benign |
|
|
IGL02696:Hdc
|
APN |
2 |
126,436,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02874:Hdc
|
APN |
2 |
126,443,596 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0453:Hdc
|
UTSW |
2 |
126,436,871 (GRCm39) |
splice site |
probably benign |
|
|
R0528:Hdc
|
UTSW |
2 |
126,458,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1337:Hdc
|
UTSW |
2 |
126,458,196 (GRCm39) |
missense |
probably benign |
|
|
R1862:Hdc
|
UTSW |
2 |
126,439,853 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1938:Hdc
|
UTSW |
2 |
126,448,317 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1994:Hdc
|
UTSW |
2 |
126,458,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Hdc
|
UTSW |
2 |
126,435,938 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2257:Hdc
|
UTSW |
2 |
126,458,000 (GRCm39) |
splice site |
probably null |
|
|
R2921:Hdc
|
UTSW |
2 |
126,435,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2923:Hdc
|
UTSW |
2 |
126,435,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3620:Hdc
|
UTSW |
2 |
126,458,187 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3621:Hdc
|
UTSW |
2 |
126,458,187 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3914:Hdc
|
UTSW |
2 |
126,444,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4076:Hdc
|
UTSW |
2 |
126,458,181 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4114:Hdc
|
UTSW |
2 |
126,443,738 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4827:Hdc
|
UTSW |
2 |
126,436,233 (GRCm39) |
missense |
probably benign |
|
|
R4889:Hdc
|
UTSW |
2 |
126,436,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5013:Hdc
|
UTSW |
2 |
126,446,220 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5593:Hdc
|
UTSW |
2 |
126,460,504 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5604:Hdc
|
UTSW |
2 |
126,436,583 (GRCm39) |
missense |
probably benign |
|
|
R5637:Hdc
|
UTSW |
2 |
126,458,109 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6211:Hdc
|
UTSW |
2 |
126,435,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6312:Hdc
|
UTSW |
2 |
126,449,326 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7730:Hdc
|
UTSW |
2 |
126,436,002 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7889:Hdc
|
UTSW |
2 |
126,458,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8328:Hdc
|
UTSW |
2 |
126,443,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Hdc
|
UTSW |
2 |
126,436,125 (GRCm39) |
missense |
probably benign |
|
|
R8517:Hdc
|
UTSW |
2 |
126,439,890 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9136:Hdc
|
UTSW |
2 |
126,439,786 (GRCm39) |
splice site |
probably null |
|
|
R9139:Hdc
|
UTSW |
2 |
126,439,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Hdc
|
UTSW |
2 |
126,436,600 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9515:Hdc
|
UTSW |
2 |
126,458,149 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAGATCAGCGCACCTCTAC -3'
(R):5'- CAACAGCTTTGGGAGTCATGG -3'
Sequencing Primer
(F):5'- GAGATCAGCGCACCTCTACATAAC -3'
(R):5'- AAATCCCAGGAGTGCTCTGCAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation